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1.
J Genet Couns ; 27(6): 1523, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30033482

RESUMO

The original article [1] was initially published with the following list of authors: Allison Werner-Lin, Shana L. Merrill, and Amanda C. Brandt. This author list is now corrected as follows: Allison Werner-Lin, Shana L. Merrill, Amanda C. Brandt, Rachel E. Barnett, & Ellen T. Matloff.

2.
J Genet Couns ; 27(3): 533-548, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29383546

RESUMO

Families often express difficulty to their providers and request guidance regarding the task of communicating with children about potential adult-onset inherited cancer risks. This disclosure is often complicated by the parent's ongoing adjustment to their mutation status, guilt at potential transmission of the mutation to the child, concern over inciting distress in children, and the varied capacities of children in the home to understand genetic information. Providers often do not have adequate resources to support or facilitate disclosure of genetic test results to children. Optimally, communication about inherited cancer risk is an open, ongoing process within the family. We recommend that parents tailor conversations to the child's developmental, cognitive, emotional, and behavioral abilities to support comprehension. Based on well-established theories of child development, empirical research on family communication of hereditary cancer risk, and clinical counseling experience, we offer recommendations for parental disclosure of genetic risk to children, case examples with critical discussion of relevant topics, common child questions with sample scripted responses, and additional printed and online resources.


Assuntos
Predisposição Genética para Doença/psicologia , Neoplasias/psicologia , Relações Pais-Filho , Pais/psicologia , Adulto , Criança , Revelação , Feminino , Testes Genéticos/estatística & dados numéricos , Humanos , Masculino , Neoplasias/diagnóstico , Neoplasias/prevenção & controle , Fatores de Risco , Revelação da Verdade
3.
Cancer J ; 20(4): 246-53, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25098283

RESUMO

After repeated media attention in 2013 due to the Angelina Jolie disclosure and the Supreme Court decision to ban gene patents, the demand for cancer genetic counseling and testing services has never been greater. Debate has arisen regarding who should provide such services and the quality of genetics services being offered. In this ongoing case series, we document 35 new cases from 7 states (California, Connecticut, Florida, Georgia, Missouri, Pennsylvania, and Utah) and the District of Columbia of adverse outcomes in cancer genetic testing when performed without the involvement of a certified genetic counselor. We identified 3 major themes of errors: wrong genetic tests ordered, genetic test results misinterpreted, and inadequate genetic counseling. Patient morbidity and mortality were an issue in several of these cases. The complexity of cancer genetic testing and counseling has grown exponentially with the advent of multigene panels that include rare genes and the potential for more variants of uncertain significance. We conclude that genetic counseling and testing should be offered by certified genetics providers to minimize the risks, maximize the benefits, and utilize health care dollars most efficiently.


Assuntos
Neoplasias/diagnóstico , Neoplasias/genética , Adulto , Idoso , Atenção à Saúde/economia , Atenção à Saúde/métodos , Feminino , Aconselhamento Genético/economia , Aconselhamento Genético/métodos , Testes Genéticos/economia , Testes Genéticos/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/economia , Medição de Risco/economia , Medição de Risco/métodos , Adulto Jovem
4.
Curr Opin Oncol ; 23(1): 28-33, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20842029

RESUMO

PURPOSE OF REVIEW: The field of cancer genetics and genetic testing is expanding rapidly. As our understanding of the hereditary nature of endocrine tumors increases, the role of genetic counseling on the multidisciplinary endocrinology team is becoming more critical. This brief review will highlight the role of the certified genetic counselor in this setting. RECENT FINDINGS: Genetic counseling and testing may aid in the management of the endocrine patient through early diagnosis and detection of disease, by optimizing surgical decision-making and improving overall survival. Certified genetic counselors assist the endocrinology team by eliciting a detailed pedigree, determining the appropriate genetic test to order, obtaining informed consent, interpreting complex genetic test results, providing psychosocial and family counseling, and assessing which family members are at risk. Many endocrine tumors can be caused by a variety of different genes and investment in the genetic counseling process likely increases the chance that the correct genetic test is ordered, results are interpreted accurately, and adequate informed consent and counseling is offered. SUMMARY: The field of endocrine genetics is growing exponentially and testing will likely play an even greater role in surveillance, medical management, and surgical decision-making in the next decade. Genetic counseling both pretesting and posttesting is essential to accurate, cost-efficient care for the endocrine patient and the entire family.


Assuntos
Aconselhamento Genético , Neoplasia Endócrina Múltipla Tipo 1/diagnóstico , Neoplasia Endócrina Múltipla Tipo 1/genética , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/genética , Endocrinologia , Testes Genéticos , Humanos , Linhagem
5.
Cancer J ; 15(1): 15-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19197168

RESUMO

Clinical genetic testing for BRCA1 and BRCA2 has become available in the past 15 years, and it has been established that female BRCA carriers have a high lifetime risk to develop both breast and ovarian cancer. Predisposition testing makes it possible to predict risk in families and to tailor medical management accordingly. In addition to close surveillance, prophylactic mastectomy and oophorectomy are primary risk reduction strategies offered to BRCA carriers. Although the emphasis of research thus far has been on the efficacy of surveillance and risk reduction strategies, it has become clear that genetic testing and the resulting medical decisions around risk reduction lead to a unique set of emotional, physical, and sexual issues for female BRCA carriers and their children. This article will focus on those issues in unaffected female BRCA carriers.


Assuntos
Imagem Corporal , Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Sexualidade , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/psicologia , Tomada de Decisões , Tubas Uterinas/cirurgia , Feminino , Fertilidade , Triagem de Portadores Genéticos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Relações Interpessoais , Casamento , Mastectomia , Mutação , Neoplasias Ovarianas/prevenção & controle , Ovariectomia , Gravidez , Desenvolvimento Sexual
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